spondyloepiphyseal dysplasia

Term ID

DOID:0112280

Synonyms

Definition

An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. (2)

References

GARD:7687

Ontology

Human Disease ( DOID:0112280 )

Relationships

is a type of: osteochondrodysplasia

osteochondrodysplasia Show first 5 Terms
has subtype: spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia Kimberley type spondyloepiphyseal dysplasia Kondo-Fu type spondyloepiphyseal dysplasia Maroteaux type spondyloepiphyseal dysplasia Nishimura type ... Show All 10 Terms

spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia Kimberley type spondyloepiphyseal dysplasia Kondo-Fu type spondyloepiphyseal dysplasia Maroteaux type spondyloepiphyseal dysplasia Nishimura type spondyloepiphyseal dysplasia Stanescu type spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia with congenital joint dislocations spondyloepiphyseal dysplasia with punctate corneal dystrophy spondyloepiphyseal dysplasia-brachydactyly and distinctive speech Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations